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Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. 1996
B Horsthemke, and
A Maat-Kievit, and
E Sleegers, and
A van den Ouweland, and
K Buiting, and
C Lich, and
P Mollevanger, and
G Beverstock, and
G Gillessen-Kaesbach, and
G Schwanitz
Institut für Humangenetik, Universitätsklinikum Essen, Germany.
A de novo interstitial deletion of 15q11-q13 is the major cause of Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Here we describe two unrelated PWS patients with a typical deletion, whose fathers have a balanced translocation involving the PWS/AS region. Microsatellite data suggest that the deletion is the result of an unequal crossover between the derivative chromosome 15 and the normal chromosome 15. We conclude that familial translocations involving 15q11-q13 can give rise to interstitial deletions causing PWS or AS and that prenatal diagnosis in such families should include fluorescence in situ hybridisation or microsatellite studies or both.
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